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Updated: Jun 23, 2025

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
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对于表型驱动的变体和基因优先级算法的标准基准:PhEval - 表型推断评估框架

Yasemin Bridges1, Vinicius de Souza2, Katherina G Cortes3

  • 1William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, EC1M 6BQ, UK.

bioRxiv : the preprint server for biology
|June 25, 2024
PubMed
概括

开发有效的罕见疾病诊断工具是一项挑战. PhEval提供了一个标准化的框架来对基因变异和基因优先级算法 (VGPA) 进行基准测试,改善罕见疾病诊断和患者护理.

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